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    SLC39A4 solute carrier family 39 member 4 [ Homo sapiens (human) ]

    Gene ID: 55630, updated on 8-Jul-2021

    Summary

    Official Symbol
    SLC39A4provided by HGNC
    Official Full Name
    solute carrier family 39 member 4provided by HGNC
    Primary source
    HGNC:HGNC:17129
    See related
    Ensembl:ENSG00000147804 MIM:607059
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    AEZ; ZIP4; AWMS2
    Summary
    This gene encodes a member of the zinc/iron-regulated transporter-like protein (ZIP) family. The encoded protein localizes to cell membranes and is required for zinc uptake in the intestine. Mutations in this gene result in acrodermatitis enteropathica. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2013]
    Expression
    Biased expression in duodenum (RPKM 47.9), small intestine (RPKM 33.9) and 3 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See SLC39A4 in Genome Data Viewer
    Location:
    8q24.3
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (144412414..144417146, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (145637798..145642228, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene cleavage and polyadenylation specific factor 1 Neighboring gene microRNA 1234 Neighboring gene microRNA 6849 Neighboring gene VPS28 subunit of ESCRT-I Neighboring gene tonsoku like, DNA repair protein Neighboring gene TONSL antisense RNA 1 Neighboring gene microRNA 6893

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ20327, MGC74741

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables zinc ion transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables zinc ion transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables zinc ion transmembrane transporter activity TAS
    Traceable Author Statement
    more info
     
    Process Evidence Code Pubs
    involved_in cellular response to zinc ion starvation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular zinc ion homeostasis IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in zinc ion import across plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in zinc ion transmembrane transport TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    located_in apical plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytoplasmic vesicle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in integral component of plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    located_in recycling endosome membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    zinc transporter ZIP4
    Names
    solute carrier family 39 (zinc transporter), member 4
    zrt- and Irt-like protein 4

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_012234.2 RefSeqGene

      Range
      4996..9477
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001280557.2NP_001267486.1  zinc transporter ZIP4 isoform 3

      See identical proteins and their annotated locations for NP_001267486.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and lacks multiple 5' exons, compared to variant 2. It initiates translation at a downstream in-frame start codon. The encoded isoform (3) has a shorter N-terminus, compared to isoform 2.
      Source sequence(s)
      AK000489
      UniProtKB/TrEMBL
      Q9NX22
      Related
      ENST00000532718.5
      Conserved Domains (1) summary
      cl00437
      Location:1140
      Zip; ZIP Zinc transporter
    2. NM_001374839.1NP_001361768.1  zinc transporter ZIP4 isoform 4 precursor

      Status: REVIEWED

      Source sequence(s)
      AC233992
      Conserved Domains (2) summary
      pfam02535
      Location:234544
      Zip; ZIP Zinc transporter
      pfam18292
      Location:29102
      ZIP4_domain; Zinc transporter ZIP4 domain
    3. NM_017767.3NP_060237.3  zinc transporter ZIP4 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 2. The encoded isoform (1) is shorter and has a distinct N-terminus, compared to isoform 2.
      Source sequence(s)
      AC233992
      Consensus CDS
      CCDS43782.1
      Related
      ENSP00000276833.5, ENST00000276833.9
      Conserved Domains (2) summary
      pfam02535
      Location:303613
      Zip; ZIP Zinc transporter
      pfam18292
      Location:37171
      ZIP4_domain; Zinc transporter ZIP4 domain
    4. NM_130849.4NP_570901.3  zinc transporter ZIP4 isoform 2 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) encodes the longest isoform (2).
      Source sequence(s)
      AC233992
      Consensus CDS
      CCDS6424.1
      Related
      ENSP00000301305.4, ENST00000301305.8
      Conserved Domains (2) summary
      pfam02535
      Location:328638
      Zip; ZIP Zinc transporter
      pfam18292
      Location:46196
      ZIP4_domain; Zinc transporter ZIP4 domain

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

      Range
      144412414..144417146 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024447189.1XP_024302957.1  zinc transporter ZIP4 isoform X2

      Conserved Domains (1) summary
      cl00437
      Location:234493
      Zip; ZIP Zinc transporter

    Reference GRCh38.p13 PATCHES

    Genomic

    1. NW_018654716.1 Reference GRCh38.p13 PATCHES

      Range
      143017..147447 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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